A review of the clinical and genetic aspects of aniridia.
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A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment.The transcription factor Pax6 is required for pancreatic β cell identity, glucose-regulated ATP synthesis, and Ca2+ dynamics in adult miceA novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.A nonsense PAX6 mutation in a family with congenital aniridia.An Update on Ocular Surface Epithelial Stem Cells: Cornea and Conjunctiva.[Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care ("aniridia guide")].Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.Transcription factor profiling identifies Sox9 as regulator of proliferation and differentiation in corneal epithelial stem/progenitor cells.Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia
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A review of the clinical and genetic aspects of aniridia.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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A review of the clinical and genetic aspects of aniridia.
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type
label
A review of the clinical and genetic aspects of aniridia.
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prefLabel
A review of the clinical and genetic aspects of aniridia.
@en
P2860
P1476
A review of the clinical and genetic aspects of aniridia.
@en
P2093
Hyunjoo J Lee
Kathryn A Colby
P2860
P304
P356
10.3109/08820538.2013.825293
P407
P577
2013-09-01T00:00:00Z